Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Journal article


Publication Details

Author(s): Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomaki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmana J, Barnes DR, Barrowdale D, Beckmann M, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova N, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldes T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, De La Hoya M, Dennis J, Devilee P, Diez O, Doerk T, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching P, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez M, Ganz PA, Gapstur SM, Garber J, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Greene MH, Gronwald J, Guenel P, Haiman CA, Hall P, Hamann U, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hoover RN, Hopper JL, Hulick PJ, Humphreys K, Imyanitov EN, Isaacs C, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Karlan BY, Khusnutdinova E, Kiiski J, Ko YD, Jones ME, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leslie G, Lester J, Lesueur F, Lindstrom S, Long J, Loud JT, Lubinski J, Makalic E, Mannermaa A, Manoochehri M, Margolin S, Maurer T, Mavroudis D, Mcguffog L, Meindl A, Menon U, Michailidou K, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade O, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Pharoah PDP, Plaseska-Karanfilska D, Poppe B, Presneau N, Radice P, Rantala J, Rennert G, Risch HA, Saloustros E, Sanden K, Sawyer EJ, Schmidt MK, Schmutzler RK, Sharma P, Shu XO, Simard J, Singer CF, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teule A, Thomassen M, Thoene K, Thull DL, Tischkowitz M, Toland AE, Torres D, Truong T, Tung N, Vachon CM, Van Asperen CJ, Van Den Ouweland AMW, Van Rensburg EJ, Vega A, Viel A, Wang Q, Wappenschmidt B, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Kraft P, Antoniou AC, Zheng W, Easton DF, Milne RL, Beesley J, Chenevix-Trench G, Arnold N, Auber B, Bogdanova-Markov N, Borde J, Caliebe A, Ditsch N, Dworniczak B, Engert S, Faust U, Gehrig A, Hahnen E, Hauke J, Hentschel J, Herold N, Honisch E, Just W, Kast K, Larsen M, Lemke J, Huu Phuc Nguyen , Niederacher D, Ott CE, Platzer K, Pohl-Rescigno E, Ramser J, Rhiem K, Steinemann D, Sutter C, Varon-Mateeva R, Wang-Gohrke S, Weber BHF, Prieur F, Pujol P, Sagne C, Sevenet N, Sobol H, Sokolowska J, Stoppa-Lyonnet D, Venat-Bouvet L, Adlard J, Ahmed M, Barwell J, Brady A, Brewer C, Cook J, Davidson R, Donaldson A, Eason J, Eeles R, Evans DG, Gregory H, Hanson H, Henderson A, Hodgson S, Izatt L, Kennedy MJ, Lalloo F, Miller C, Morrison PJ, Ong KR, Perkins J, Porteous ME, Rogers MT, Side LE, Snape K, Walker L, Harrington PA, Heemskerk-Gerritsen BAM, Rookus MA, Seynaeve CM, Van Der Baan FH, Van Der Hout AH, Van Der Kolk LE, Van Der Luijt RB, Van Deurzen CHM, Van Doorn HC, Van Engelen K, Van Hest L, Van Os TAM, Verhoef S, Vogel MJ, Wijnen JT, Miron A, Kapuscinski M, Bane A, Ross E, Buys SS, Conner TA, Balleine R, Baxter R, Braye S, Carpenter J, Dahlstrom J, Forbes J, Lee SC, Marsh D, Morey A, Pathmanathan N, Simpson P, Spigelman A, Wilcken N, Yip D
Journal: Nature Communications
Publication year: 2019
Volume: 10
ISSN: 2041-1723


Abstract

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.


FAU Authors / FAU Editors

Beckmann, Matthias Prof. Dr.
Lehrstuhl für Geburtshilfe und Frauenheilkunde
Fasching, Peter PD Dr.
Professur für Translationale Frauenheilkunde und Geburtshilfe


How to cite

APA:
Ferreira, M.A., Gamazon, E.R., Al-Ejeh, F., Aittomaki, K., Andrulis, I.L., Anton-Culver, H.,... Yip, D. (2019). Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications, 10. https://dx.doi.org/10.1038/s41467-018-08053-5

MLA:
Ferreira, Manuel A., et al. "Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer." Nature Communications 10 (2019).

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Last updated on 2019-22-05 at 21:08